7 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:9562 | primary ciliary dyskinesia | A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. |
| DOID:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0060340 | ciliopathy | A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. |
| DOID:0110595 | Stromme syndrome | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:9562 | DOID:0110595 |
| is_a | DOID:0050177 | DOID:0110595 |
| is_a | DOID:0060340 | DOID:0110595 |
| is_a | DOID:4 | DOID:0110595 |
| is_a | DOID:225 | DOID:0110595 |
| is_a | DOID:630 | DOID:0110595 |
